Knowledge base for genomic medicine in Japanese
ウィルムス腫瘍
腫瘍性疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000059.4(BRCA2):c.8219T>A (p.Leu2740Ter)BRCA2Pathogenic133293755832937558TAreviewed by expert panelClinGen:CA025524,OMIM:600185.0028
single nucleotide variantNM_000059.4(BRCA2):c.4648G>T (p.Glu1550Ter)BRCA2Pathogenic133291314032913140GTreviewed by expert panelClinGen:CA020587,OMIM:600185.0029
single nucleotide variantNM_000059.4(BRCA2):c.7529T>C (p.Leu2510Pro)BRCA2Pathogenic133293065832930658TCcriteria provided, multiple submitters, no conflictsClinGen:CA025134,OMIM:600185.0030
single nucleotide variantNM_000059.4(BRCA2):c.5645C>G (p.Ser1882Ter)BRCA2Pathogenic133291413732914137CGreviewed by expert panelClinGen:CA022825,OMIM:600185.0031
single nucleotide variantNM_000059.4(BRCA2):c.9196C>T (p.Gln3066Ter)BRCA2Pathogenic133295422232954222CTreviewed by expert panelClinGen:CA026028,OMIM:600185.0032
single nucleotide variantNM_000059.4(BRCA2):c.631+1G>ABRCA2Pathogenic/Likely pathogenic133290075132900751GAcriteria provided, multiple submitters, no conflictsBreast Cancer Information Core (BIC) (BRCA2):859+1&base_change=G to A,ClinGen:CA023848,OMIM:600185.0033
single nucleotide variantNM_000059.4(BRCA2):c.631+2T>GBRCA2Pathogenic133290075232900752TGreviewed by expert panelBreast Cancer Information Core (BIC) (BRCA2):859+2&base_change=T to G,ClinGen:CA023852,OMIM:600185.0034
DeletionNM_000059.4(BRCA2):c.1029del (p.Lys343fs)BRCA2Pathogenic133290664032906640GAGreviewed by expert panelBreast Cancer Information Core (BIC) (BRCA2):1257&base_change=del A,ClinGen:CA010596
DuplicationNM_000059.4(BRCA2):c.1054dup (p.Tyr352fs)BRCA2Pathogenic133290666832906669AATreviewed by expert panelBreast Cancer Information Core (BIC) (BRCA2):1282&base_change=ins T,ClinGen:CA010673
DeletionNM_000059.4(BRCA2):c.1156del (p.Glu386fs)BRCA2Pathogenic133290677032906770AGAreviewed by expert panelClinGen:CA010998